ClinVar Miner

List of variants in gene VCAN reported as likely benign by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

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Gene type:
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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_004385.5(VCAN):c.7419C>T (p.Ser2473=) rs61754536 0.00819
NM_004385.5(VCAN):c.4604A>G (p.Glu1535Gly) rs61749614 0.00315
NM_004385.5(VCAN):c.5187G>A (p.Glu1729=) rs35648048 0.00302
NM_004385.5(VCAN):c.1523T>A (p.Ile508Asn) rs143368552 0.00271
NM_004385.5(VCAN):c.9234G>A (p.Glu3078=) rs139453864 0.00270
NM_004385.5(VCAN):c.574G>A (p.Gly192Arg) rs141008923 0.00245
NM_004385.5(VCAN):c.7551C>T (p.Asp2517=) rs77870162 0.00182
NM_004385.5(VCAN):c.2666C>T (p.Thr889Ile) rs149153726 0.00128
NM_004385.5(VCAN):c.1243A>G (p.Ile415Val) rs141268824 0.00127
NM_004385.5(VCAN):c.2028A>G (p.Leu676=) rs147286274 0.00127
NM_004385.5(VCAN):c.3076A>G (p.Ile1026Val) rs570423677 0.00015
NM_004385.5(VCAN):c.8621C>T (p.Ala2874Val) rs147798761 0.00015
NM_004385.5(VCAN):c.7581C>T (p.Phe2527=) rs149880697 0.00013
NM_004385.5(VCAN):c.1400C>T (p.Ser467Phe) rs115336789
NM_004385.5(VCAN):c.6902T>G (p.Phe2301Cys) rs160278

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